Metabolic Diseases
-
Abetalipoproteinemia (sequence analysis of MTTP gene)
+ info
-
Aconitase deficiency (sequence analysis of ISCU gene)
+ info
-
Acute intermittent porphyria (deletion/duplication analysis on HMBS gene)
+ info
-
Acute porphyria (NGS panel of 9 genes)
+ info
-
Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes)
+ info
-
Acyl-CoA dehydrogenase 9 deficiency (sequence analysis of ACAD9 gene)
+ info
-
Acyl-CoA dehydrogenase, medium chain deficiency (c.985A>G mutation on ACADM gene)
+ info
-
Acyl-CoA medium-chain dehydrogenase deficiency (sequence analysis of ACADM gene)
+ info
-
Acyl-CoA peroxisomal oxidase deficiency (sequence analysis of ACOX1 gene)
+ info
-
Adenylosuccinase deficiency (sequence analysis of ADSL gene)
+ info
-
Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis on CYP21A2 gene)
+ info
-
Alanine-glyoxylate aminotransferase deficiency (primary hyperoxaluria type 1) (deletion/duplication analysis on AGXT gene)
+ info
-
Alkaptonuria (sequence analysis of HGD gene)
+ info
-
Alpha methylacyl CoA racemase deficiency (sequence analysis of AMACR gene)
+ info
-
Alpha-2-macroglobulin deficiency (sequence analysis of A2M gene)
+ info
-
Alpha-mannosidase (sequence analysis of MAN2B1 gene)
+ info
-
Alpha-methylacetoacetic aciduria (sequence analysis of ACAT1 gene)
+ info
-
Alpha-N-acetylgalactosaminidase deficiency (sequence analysis of NAGA gene)
+ info
-
Aminoacylase deficiency (deletion/ duplication analysis of ACY1 gene)
+ info
-
Aminoacylase deficiency (sequence analysis of ACY1 gene)
+ info